Hexa^tm1Grv
Targeted Allele Detail

Summary

• Symbol: Hexa^tm1Grv
• Name: hexosaminidase A; targeted mutation 1, Roy A Gravel
• MGI ID: MGI:2429698
• Synonyms: Hexa -
• Gene: Hexa Location: Chr9:59446966-59472392 bp, + strand Genetic Position: Chr9, 32.02 cM
• Alliance: Hexa^tm1Grv page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:30899
• Parent Cell Line: CGR8 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Exon 11 was disrupted by the insertion of a neomycin selection cassette. Northern blot analysis of homozygous mutant mice showed an absence of normal transcript and the presence of an elongated transcript which contained neo sequence. Hydrolysis of 4-MUG-6-sulfate (MUGS) was reduced to less than 5% in homozygous mutant mice. (J:30899)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Hexa Mutation: 26 strains or lines available

References

• Original: J:30899 Phaneuf D, et al., Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum Mol Genet. 1996 Jan;5(1):1-14
• All: 12 reference(s)